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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
AARS2
alanyl-tRNA synthetase 2, mitochondrial
Chromosome 6 Β· 6p21.1
NCBI Gene: 57505Ensembl: ENSG00000124608.6HGNC: HGNC:21022UniProt: Q5JTZ9
92PubMed Papers
22Diseases
0Drugs
71Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
alanine-tRNA ligase activitypeptide lactyltransferase (ATP-dependent) activitymitochondrial alanyl-tRNA aminoacylationprotein bindingcombined oxidative phosphorylation defect type 8leukoencephalopathy, progressive, with ovarian failureneurodegenerative diseasegenetic disorder
✦AI Summary

AARS2 encodes the mitochondrial alanyl-tRNA synthetase responsible for charging tRNA(Ala) with alanine in mitochondria, essential for mitochondrial protein synthesis 1. Beyond its canonical aminoacylation function, AARS2 serves as an intracellular lactate sensor with micromolar affinity for L-lactate 2. In the presence of elevated lactate levels, AARS2 functions as a lactyltransferase, catalyzing ATP-dependent lysine lactylation of target proteins including cGAS and CPT2 23. This lactylation activity regulates multiple cellular processes: it inactivates cGAS by preventing liquid-like droplet formation necessary for DNA sensing, thereby inhibiting cGAS/STING signaling 2, and promotes follicle development through CPT2 inactivation and metabolic reprogramming 3. Pathogenic AARS2 mutations cause severe mitochondrial disorders including combined oxidative phosphorylation deficiency and progressive leukoencephalopathy with ovarian failure 45. Some POI-associated mutations exhibit gain-of-function lactyltransferase activity, leading to premature ovarian insufficiency through accelerated follicle depletion 3. AARS2 deficiency has also been implicated in severe childhood cardiomyopathies, highlighting its critical role in mitochondrial function across multiple organ systems 6.

Sources cited
1
AARS2 functions as lactate sensor and lactyltransferase that inactivates cGAS through lactylation
PMID: 39322678
2
AARS2 lactylates CPT2 and promotes follicle development; POI mutations show gain-of-function lactyltransferase activity
PMID: 40301335
3
AARS2 is essential for mitochondrial protein synthesis and translation efficiency
PMID: 40160097
4
AARS2 mutations cause progressive leukoencephalopathy
PMID: 30467211
5
AARS2 is associated with syndromic primary ovarian insufficiency
PMID: 34794894
6
AARS2 mutations implicated in severe childhood cardiomyopathies
PMID: 30384889
Disease Associationsβ“˜22
combined oxidative phosphorylation defect type 8Open Targets
0.79Strong
leukoencephalopathy, progressive, with ovarian failureOpen Targets
0.77Strong
neurodegenerative diseaseOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.50Moderate
mitochondrial diseaseOpen Targets
0.50Moderate
Abnormality of the cardiovascular systemOpen Targets
0.47Moderate
rheumatoid arthritisOpen Targets
0.42Moderate
Pulmonary hypoplasiaOpen Targets
0.41Moderate
cardiomyopathyOpen Targets
0.38Weak
Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented gliaOpen Targets
0.37Weak
hydrops fetalisOpen Targets
0.37Weak
ovarioleukodystrophyOpen Targets
0.37Weak
leukoencephalopathy, diffuse hereditary, with spheroids 1Open Targets
0.37Weak
PolyhydramniosOpen Targets
0.37Weak
Generalized muscle weaknessOpen Targets
0.34Weak
Iron accumulation in brainOpen Targets
0.26Weak
combined oxidative phosphorylation deficiencyOpen Targets
0.17Weak
preeclampsiaOpen Targets
0.15Weak
cancerOpen Targets
0.08Suggestive
myocardial infarctionOpen Targets
0.08Suggestive
Combined oxidative phosphorylation deficiency 8UniProt
Leukoencephalopathy, progressive, with ovarian failureUniProt
Pathogenic Variants71
NM_020745.4(AARS2):c.1940del (p.Gly647fs)Pathogenic
Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 647
NM_020745.4(AARS2):c.647dup (p.Cys218fs)Pathogenic
Combined oxidative phosphorylation defect type 8|Pulmonary hypoplasia|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 218
NM_020745.4(AARS2):c.1701dup (p.Gln568fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 568
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)Pathogenic
Combined oxidative phosphorylation defect type 8|not provided|Inborn genetic diseases|Pulmonary hypoplasia|Leukoencephalopathy, progressive, with ovarian failure|AARS2-related disorder|Mitochondrial disease
β˜…β˜…β˜†β˜†2025β†’ Residue 592
NM_020745.4(AARS2):c.2598+1G>TPathogenic
not provided|AARS2-related disorder|Adrenocortical carcinoma, hereditary
β˜…β˜…β˜†β˜†2025
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del)Pathogenic
not provided|Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8
β˜…β˜…β˜†β˜†2025β†’ Residue 131
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys)Pathogenic
not provided|Combined oxidative phosphorylation defect type 8|Generalized muscle weakness|Leukoencephalopathy, progressive, with ovarian failure|Inborn genetic diseases|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025β†’ Residue 199
NM_020745.4(AARS2):c.1738C>T (p.Arg580Trp)Likely pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 580
NM_020745.4(AARS2):c.1329T>A (p.Cys443Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 443
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)Likely pathogenic
Inborn genetic diseases|not provided|Leukoencephalopathy, progressive, with ovarian failure;Combined oxidative phosphorylation defect type 8
β˜…β˜…β˜†β˜†2024β†’ Residue 958
NM_020745.4(AARS2):c.1561C>T (p.Arg521Ter)Pathogenic
Leukoencephalopathy, progressive, with ovarian failure|Combined oxidative phosphorylation defect type 8|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 521
NM_020745.4(AARS2):c.781del (p.Gln261fs)Pathogenic
not provided|Leukoencephalopathy, progressive, with ovarian failure
β˜…β˜…β˜†β˜†2024β†’ Residue 261
NM_020745.4(AARS2):c.2611dup (p.Thr871fs)Pathogenic
Leukoencephalopathy, progressive, with ovarian failure|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 871
NM_020745.4(AARS2):c.2146-2A>GPathogenic
Inborn genetic diseases|Combined oxidative phosphorylation defect type 8
β˜…β˜…β˜†β˜†2020
NM_020745.4(AARS2):c.941del (p.Glu314fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 314
NM_020745.4(AARS2):c.2730_2757dup (p.Met920fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 920
NM_020745.4(AARS2):c.2607del (p.Thr871fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 871
NM_020745.4(AARS2):c.2775_2776del (p.Ala926fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 926
NM_020745.4(AARS2):c.367C>T (p.Arg123Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 123
NM_020745.4(AARS2):c.452T>C (p.Met151Thr)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 151
View on ClinVar β†—
Related Genes
EPRS1Protein interaction100%MARS2Protein interaction95%FARS2Protein interaction88%ANAPC4Protein interaction85%CDC16Protein interaction84%ANAPC1Protein interaction83%
Tissue Expression6 tissues
Ovary
100%
Liver
76%
Bone Marrow
70%
Heart
66%
Brain
56%
Lung
50%
Gene Interaction Network
Click a node to explore
AARS2EPRS1MARS2FARS2ANAPC4CDC16ANAPC1
PROTEIN STRUCTURE
Preparing viewer…
PDB6NLQ Β· 1.15 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.75LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.62 [0.52–0.75]
RankingsWhere AARS2 stands among ~20K protein-coding genes
  • #5,176of 20,598
    Most Researched92
  • #1,027of 5,498
    Most Pathogenic Variants71 Β· top quartile
  • #5,966of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedAARS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
AARS1 and AARS2 sense L-lactate to regulate cGAS as global lysine lactyltransferases.
PMID: 39322678
Nature Β· 2024
1.00
2
Emerging roles of lysine lactyltransferases and lactylation.
PMID: 40185947
Nat Cell Biol Β· 2025
0.90
3
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab Β· 2022
0.80
4
Srsf3-Dependent APA Drives Macrophage Maturation and Limits Atherosclerosis.
PMID: 40160097
Circ Res Β· 2025
0.70
5
AARS2-catalyzed lactylation induces follicle development and premature ovarian insufficiency.
PMID: 40301335
Cell Death Discov Β· 2025
0.60